Variant: rs62635045 

    present in Gene: GPR143;LOC105373126
    present in Chromosome: X
    Position on Chromosome: 9741349
    Alleles of this Variant: A/C

rs62635045 in GPR143;LOC105373126 gene and Albinism PMID 8634705 1995 Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

rs62635045 in GPR143;LOC105373126 gene and Ocular albinism, type I PMID 11214907 2001 Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

PMID 9529334 1998 OA1 mutations and deletions in X-linked ocular albinism.

PMID 18697795 2008 The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.

PMID 16621890 2006 An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1.

PMID 18978956 2008 Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

PMID 17822861 2007 New mutations identified in the ocular albinism type 1 gene.

PMID 16646960 2006 Eight previously unidentified mutations found in the OA1 ocular albinism gene.

PMID 17960122 2007 Identification of two novel mutations in families with X-linked ocular albinism.

PMID 11115845 2000 Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.

PMID 9887374 1999 X-linked ocular albinism: prevalence and mutations--a national study.

PMID 8634705 1995 Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

PMID 16524428 2006 The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor.